Primary Dystonia

Primary dystonia is a neurological movement disorder that results in involuntary muscle contractions and other uncontrollable muscle movements. It is a result of dysfunction of the part of the brain, called the basal ganglia, that aids in coordination and movement.

Signs and Symptoms

The symptoms of primary dystonia begin during movement, but as it advances, they can occur at rest. Common early symptoms include the following:

  • Tremor
  • Problems with vision, such as eye irritation, sensitivity to light or increased blinking
  • Subtle facial spasms
  • Difficulty chewing
  • Changes in speech
  • Cramping in the muscles
  • Easily fatigued during movement

Symptoms of advanced primary dystonia include quick and involuntary movement, twisting or contortions of the body, abnormal walking and fixed postures.

Potential Causes

Primary dystonia is commonly caused by mutations of the DYT1 gene. Other genes that can result in primary dystonia include mutations in DYT6, DYT7, DYT2 and DYT4. It can also be a result of damage to the basal ganglia. 

Diagnosis

Many other conditions can cause the same symptoms, so it is important to check with your doctor for an accurate diagnosis. Only a doctor experienced in recognizing the exact combination of symptoms that indicate primary dystonia can make a firm diagnosis.

Diagnosis starts with a physical exam and medical history. Other procedures and tests may be needed to diagnose, including:

  • Detailed neurological exam This is an assessment of the body’s nervous system, including neurons and motor responses such as reflexes. Your doctor will look specifically for dystonic movements.
  • Electromyogram (EMG) mapping This is an assessment of the electrical activity of the muscles and can help determine which muscles are activating, and the different components of the muscle movements. 

Treatment Options

Primary dystonia usually involves three main treatment paths that are usually implemented in a combination:

  • Botox
  • Medication
  • Surgery
    • Stereotactic ablation The goal of this surgery it to create a “lesion” in the brain with energy in the form of heat (electricity, laser, radio wave or ultrasound). The surgery can be done with or without a “frame,” which is a device that is fixed onto your head before you obtain an MRI of your brain. This defines the “frame based stereotactic” surgery vs. the “frameless stereotactic” surgery. A special high resolution shortly before your surgery is needed in both types of operations to help target the exact part of your brain in millimeters that needs to be treated.

      You will be brought into the operating room and typically given conscious sedation with medications given through your IV to make you feel comfortable without going to sleep completely. During the procedure, you may be asked to give feedback on what you are feeling. After the procedure is complete, you will typically spend one night in the hospital and likely go home the next day. You should ask your doctor about your specific surgery.
    • Deep brain stimulation This procedure may be recommended because, over time, medications for treating these types of diseases become less effective. Before quality of life declines significantly, we recommend surgery for select patients to improve their quality of life. Asleep Deep Brain Stimulator surgery is the best way to have your surgery performed with modern computer technology. 

      One to two weeks before your surgery, you will have a special MRI of your brain at the same hospital as your surgery, along with an appointment to make sure you can safely go to sleep with anesthesia for the surgeries. Once asleep, you will have two very thin electrodes placed in your brain. There will be a CT scan done before you wake up to confirm accuracy of the leads, and then your first surgery will finish. You will stay in the hospital one night and go home the next day.

      One week later, you will have an outpatient surgery asleep where the generator, also known as “battery,” will be placed below your collar bone (where a pacemaker goes). You will go home the same day, and the battery will be turned on in your neurologist’s office.
    • Rhizotomy Radiofrequency Ablation (rhizotomy) is a procedure where high-frequency radio waves are used to generate heat and cause a lesion along a nerve that supplies sensation to a joint in your spine. This procedure is performed by a physician who is double board-certified in Anesthesia and Pain Medicine, using live X-ray in either the office or surgery center setting. This procedure typically takes about 20–30 minutes and may be performed either with local anesthetic, oral sedation or IV sedation in the surgery center depending on patient preference. 

      During the procedure, a special needle is advanced to the target area under fluoroscopic (X-ray) guidance. A small amount of electrical current is then utilized to demonstrate proper placement along the targeted nerve. You will feel a buzz or tapping sensation, but it typically isn’t painful. Once the needle has been properly placed, a local anesthetic will be placed into the targeted area. The radiofrequency ablation will then be performed, which typically lasts a few minutes. A combination of local anesthetic and injectable steroids are then injected before the needle is removed.
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